Familial disseminated superficial actinic porokeratosis
Gene: SSH1
This gene should stay in red as the data is based on very old linkage data.Created: 20 Jun 2017, 12:47 p.m.
Comment when marking as ready: Marked SSH1 as ready: June 22nd 2017.Created: 22 Jun 2017, 1:40 p.m.
Comment on list classification: Kept rating as Red to match External expert review: insufficient evidence to support role of SSH1 in DSAP.Created: 22 Jun 2017, 1:40 p.m.
The evidence for a pathogenic role for SSH1 in DSAP isn't widely confirmed: Zhang et al., 2004 (PMID:15459975) identified a missense mutation, p.Ser63Asn in SSH1 in one family, a frameshift mutation, p.Ser19CysfsX24 in an alternative variant (isoform F) of SSH1 in another family, and a frameshift mutation, p.Pro27ProfsX54 in the same alternative variant in one non-familial case with DSAP. However Frank et al subsequently PMID:17621637 don't find SSH1 mutations in Dutch DSAP patients and question the SSH1 association.Created: 8 Nov 2016, 4:25 p.m.
Promoted to Version 1 on 7 September 2017. Reviews were assessed and panel was revised after additional curation and Genomics England clinical input.
This gene has been classified as Red List (Low Evidence).
This gene has been classified as Red List (Low Evidence).
SSH1 was created by rfoulger
SSH1 was added to Familial disseminated superficial actinic porokeratosispanel. Sources: Other